Results 41 to 50 of about 57,910 (287)

Late onset of Huntington's disease [PDF]

, 1985
Twenty-five patients with late-onset Huntington's disease were studied; motor impairment appeared at age 50 years or later. The average age at onset of chorea was 57.5 years, with an average age at diagnosis of 63.1 years.
Myers, R. H., Sax, D. S., Schoenfeld, M., Bird, E. D., Wolf, P. A., Vonsattel, J. P., White, R. F., Martin, J. B.   +7 more
core  

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Age-related and disease locus-specific mechanisms contribute to early remodelling of chromatin structure in Huntington’s disease mice

Nature Communications, 2021
The dynamics of chromatin and transcriptional changes underlying Huntington’s disease remain poorly understood. Here the authors use a Huntington’s mouse model to profile the striatal chromatin landscape, finding that the Huntington’s mutation ...
Rafael Alcalá-Vida, Jonathan Seguin, Caroline Lotz, Anne M. Molitor, Ibai Irastorza-Azcarate, Ali Awada, Nezih Karasu, Aurélie Bombardier, Brigitte Cosquer, Jose Luis Gomez Skarmeta, Jean-Christophe Cassel, Anne-Laurence Boutillier, Thomas Sexton, Karine Merienne   +13 more
doaj   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Huntington’s disease: Neuropsychiatric manifestations of Huntington’s disease [PDF]

Australasian Psychiatry, 2018
Objectives: Huntington’s disease (HD) is a profoundly incapacitating, and ultimately fatal, neurodegenerative disease. HD is presently incurable, so the current goal is to allow affected individuals to live as well as possible with the illness, to maximise functional independence and quality of life for the person with HD, their carers and family ...
Anita MY Goh, Pierre Wibawa, Samantha M Loi, Mark Walterfang, Dennis Velakoulis, Jeffrey CL Looi   +5 more
openaire   +3 more sources

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Combined use of a double-lumen tube and Fogarty catheter to prevent the endobronchial spread of infection: a case report [PDF]

Korean Journal of Anesthesiology, 2016
Huntington's disease is a neurodegenerative disorder with an autosomal dominant inheritance pattern. Patients with Huntington's disease show an increased risk of aspiration pneumonia when the pharyngeal muscle is invaded.
Jaewon Kim, Hyelim Lee, Han Park, Chang-Young Jeong   +3 more
doaj   +1 more source

The Role of Innovation Technology in the Rehabilitation of Patients Affected by Huntington’s Disease: A Scoping Review

Biomedicines, 2023
Huntington’s disease is an autosomal dominant neurodegenerative disease caused by the repetition of cytosine, adenine, and guanine trinucleotides on the short arm of chromosome 4p16.3 within the Huntingtin gene.
Maria Grazia Maggio, Luana Billeri, Davide Cardile, Angelo Quartarone, Rocco Salvatore Calabrò   +4 more
doaj   +1 more source

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi, Caroline Gochanour, Seung Ho Choi, Hyunkeun Cho, Chelsea Caspell‐Garcia, Christopher Coffey, Michael Brumm, David‐Erick Lafontant, Yuge Xiao, Thomas Tropea, John Seibyl, Caroline Tanner, Charles S. Venuto, Karl Kieburtz, Lana M. Chahine, Kathleen L. Poston, Andrew Siderowf, Kenneth Marek, Tanya Simuni, The Parkinson's Progression Markers Initiative   +19 more
wiley   +1 more source

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage [PDF]

, 2018
Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before ...
Bernardini, Laura, Bidollari, Eris, Candido, Ornella, Consoli, Federica, De Luca, Alessandro, Ferrari, Daniela, Ilari, Andrea, Lamorte, Giuseppe, Rosati, Jessica, Rotundo, Giovannina, Santimone, Iolanda, Squitieri, Ferdinando, Vescovi, Angelo Luigi   +12 more
core   +2 more sources